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Home , Haemophilia A, Hemarthrosis, Thrombocytopenia

Asian Research Journal

3(4): 31-33, 2020; Article no.AHRJ.62533

Immune in a Case of Severe Congenital Hemophilia A: A Rare Clinical Scenario

Malini Garg1, Prakas Kumar Mandal1* and Debasis Gantait1

1Department of Haematology, NRS Medical College, Kolkata- 700014, India.

Authors’ contributions

This work was carried out in collaboration among all authors. Authors MG and PKM was involved in the clinical study. Authors MG, PKM and DG designed the concept, managed the literature searches and wrote the first draft of the manuscript. Author PKM edited and revised the manuscript. All authors read and approved the final manuscript.

Article Information

Editor(s): (1) Dr. Dharmesh Chandra Sharma, G. R. Medical College & J. A. Hospital, India. Reviewers: (1) Han-Mou Tsai, Downstate Medical Centre, USA. (2) Clara Letícia Justino, FPM - Patos de Minas College, Brazil. Complete Peer review History: http://www.sdiarticle4.com/review-history/62533

Received 26 August 2020 Accepted 01 November 2020 Case Study Published 20 November 2020

ABSTRACT

The presence of a dual haemostatic defect is extremely rare. Here, we describe a very rare case of newly diagnosed immune thrombocytopenia in a case of severe hemophilia A.

Keywords: Congenital hemophilia a; immune thrombocytopenia; dual haemostatic defect.

1. INTRODUCTION 10,000 births [2]. Severe hemophiliacs with factor VIII levels of <1% have spontaneous bleeding Immune thrombocytopenic (ITP) is an into and soft tissues; muco-cutaneous autoimmune disorder characterized by persistent is less common. The presence of a thrombocytopenia. The incidence of ITP is double haemostatic defect is extremely rare. estimated to be 2 to 5 per 100,000 persons in the Here, we have described a very rare case of general population [1]. A typical case of ITP newly diagnosed immune thrombocytopenia in a presents with a petechial rash and a history of case of severe hemophilia A. increased bruising following knocks or falls. 2. PRESENTATION OF THE CASE Hemophilia A is an X linked recessive disease due to deficiency of factor VIII. It has A 23 year old, non diabetic, normotensive, an estimated frequency of approximately one in euthyroid male presented with sudden onset ______

*Corresponding author: E-mail: [email protected];

Garg et al.; AHRJ, 3(4): 31-33, 2020; Article no.AHRJ.62533

echhymotic patchesover all the four limbs and inhibitor assay revealed inhibitor level of <0.5 trunk since three daysbefore attending this Bethesda unit. Viral serology for HBsAg, anti- hospital. It was not associated with any history of HCV and HIV were non reactive and serum anti fever, pains or any active bleeding from any nuclear levels were within normal limits. other site of the body. At the age of one year, he Thus a diagnosis of immune thrombocytopenic was diagnosed to be suffering from severe purpura (newly diagnosed) was made and hemophilia A (fVIII levels<1%). As per his treated with intravenous methylprednisolone medical records, he was on secondary injection (1000 mg/dose/day) for three days prophylaxis of factor VIII concentratetwice weekly followed by oral prednisolone @ 1mg/kg/day. He since childhood with no previous history of was regularly followed up, thrombocytopenia inhibitor development. He had past history of improved remarkably and there was complete recurrent in right joint and response ( count >100,000/ cumm) by also had ahistory of right psoas bleed one year two weeks. With clinical improvement and back. However, this time, his echhymotic patches response assessment, steroids were gradually were not associated with any new joint bleed. tapered and he is now off steroid for 6 wks and Physicalexamination revealed multiple last platelet count is 120,000/cumm done 7 days echhymotic patches on all four limbs and trunk back. He is also continuing hemophilia (Fig. 1). Musculoskeletal examination revealed prophylaxis as before. Considering the high rate mild fixed flexion deformity in right knee joint. of relapse in ITP in adults, the patient was Findings of other systemic examination were advised to follow up regularly in the outpatient within normal limits. department every 4 wks or earlier with any new symptoms of muco-cutaneous bleeding and doing well till now.

3. DISCUSSION

Severe thrombocytopenia developing in a pre- existing case of severe hemophilia is a vexing problem and very few case reports are available in the literature describing the coexistence of these two hemostatic defects together. Cases of ITP in acquired hemophilia have been described before [3]. This could be explained by role of immune mechanism in the pathogenesis of both the hemostatic defect. This could also explain the pathogenesis of immune thrombocytopenia in a Fig. 1. Echhymotic patches on dorsum of left patient of hemophilia with inhibitor. hand Riodorn et al. [4] have described two cases of He was thoroughly investigated. Hemoglobin was bleeding from idiopathic thrombocytopenia with 14.9 g/dl, normal total leukocyte count (5500 low factor VIII levels. In their first case they have cells/cum m) with 45% neutrophils, 45% reported the unmasking of a previously lymphocytes, 6% monocytes and 4% asymptomatic A by an episode of eosinophils, red cells were normocytic ITP. In their second case, idiopathic normochromic and there was severe thrombocytopenia was complicated by partial thrombocytopenia (<10,000/ cumm) on FVIII: C deficiency. peripheral smear.Based on and peripheral smear examinations, it was a HIV related thrombocytopenia has been case of isolated thrombocytopenia. function described in patients with severe hemophilia [5]. tests and renal function tests were within normal Ragni et al. [6] have described Hemorrhagic limits.Ultrasonography of abdomen revealed no sequelae of ITP in nine HIV infected Hemophiliac abnormality including normal spleen size. FVIII patients. They have concluded that ITP and inhibitor assay revealed inhibitor level of <0.5 thrombocytopenia in HIV positive hemophiliacs Bethesda unit. Viral serology for HBsAg, anti- may result in potentially severe morbidity and HCV and HIV were non reactive and serum anti mortality, including CNS hemorrhage. nuclear antibody levels were within normal limits. Thrombocytopenia has also been described in Ultrasonography of abdomen revealed no HIV negative hemophiliacs who have received abnormality including normal spleen size. FVIII multiple transfusions of blood products and has

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Garg et al.; AHRJ, 3(4): 31-33, 2020; Article no.AHRJ.62533

been strongly associated with liver diseases [7]. purpura in the general practice research In the present case, viral serology was non database. Br J Haematol. 2009;145(2): reactive, were within normal 235–44. limits. And he responded well with steroids. 2. Srivastava A, Brewer AK, Mauser- Bunschoten EP, Key NS, Kitchen S, Llinas Reen et al. [8] have described a case of steroid A, et al. Guidelines for the management of resistant ITP with severe hemophilia A, treated hemophilia, Haemophilia. 2013;19(1):e1– with . They have opined that 47. patients with hemophilia must have their platelet 3. Wei F. Successful treatment of acquired counts monitored closely and any unusual hemophilia a associated with immune pattern of bleeding must be reported. thrombocytopenia and joint hemarthrosis: A case report and literature 4. CONCLUSION review. (Baltimore).

2018;97(38):e12044. Immune thrombocytopenia developing in a case doi:10.1097/MD.0000000000012044 of severe congenital hemophilia Ais a very rare 4. Riordan M, Hill F. Atypical bleeding due to entity. However, as described in the present idiopathic thrombocytopenia in association case, the dual hemostatic defects can coexist with low factor VIII levels. Arch Dis Child. together. 2002;87(3):227–8. CONSENT 5. Sloand EM, Klein HG, Banks SM, Vareldzis B, Merritt S, Pierce P. As per international standard or university Epidemiology of thrombocytopenia in HIV standard, patients’ written consent has been infection. Eur J Haematol. 1992;48(3):168- collected and preserved by the author(s). 72. doi: 10.1111/j.1600- 0609.1992.tb00591.x. ETHICAL APPROVAL 6. Ragni MV, Bontempo FA, Myers DJ, Kiss JE, Oral A. Hemorrhagic sequelae of As per international standard or university immune in standard ethical approval has been collected and human -infected preserved by the authors. hemophiliacs. Blood. 1990; 75(6):1267-72. 7. Eyster ME, Whitehurst DA, Catalano PM, COMPETING INTERESTS McMillan CW, Goodnight SH, Kasper CK, et al. Long-term follow-up of hemophiliacs Authors have declared that no competing with lymphocytopenia or interests exist. thrombocytopenia. Blood. 1985;66(6):1317-20. REFERENCES 8. Reen BS, Card RT, McSheffrey JB, Skinnider LF. Chronic immune 1. Marieke Schoonen W, Kucera G, Coalson thrombocytopenic purpura in hemophilia J, Li L, Rutstein M, Mowat F, et al. A. Can Med Assoc J. 1983;129(9):990- Epidemiology of immune thrombocytopenic 991. ______© 2020 Garg et al.; This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Peer-review history: The peer review history for this paper can be accessed here: http://www.sdiarticle4.com/review-history/62533

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